Winter 2013

RESEARCH REGISTRY UPDATE Vol. 15 / Issue 1 / Winter 2013 Make sure you get research invitations! Letter from the Director W WELCOME to this winte...
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RESEARCH REGISTRY

UPDATE

Vol. 15 / Issue 1 / Winter 2013

Make sure you get research invitations! Letter from the Director

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WELCOME to this winter’s version of the Alpha-1 Foundation Research Registry Newsletter. The Registry has been busy over the past six months and has fulfilled a record number of requests from researchers to recruit for their studies. Some of these requests are very regional, some come only if we have an accurate email address for you, and others are more general. However, if you have not received research study advisories over the past six months, then something is amiss. Please call the Registry toll-free at (877) 886-2383 to assure we have correct contact information for you. We are pleased to announce the hiring of our 5th Registry coordinator since the Registry moved to Charleston in 2000. At first glance, the response is that I must be a poor boss! However, one of our University missions is to

train young researchers, who then find still need participants. Although the their way in the world. I appreciate the decision to participate in research is hard work that Michael Graves put into always yours, advances in Alpha-1 his three years as Registry coordinator. would never be made without the Michael has joined the Medical continuing commitment of this University Hospital Authority as an wonderful community to support analyst to coordinate hospital quality meaningful advances in Alpha-1 research. Also we invite you to visit the new improvement initiatives, and we wish website of the Alpha-1 Foundation him well in his new job. We welcome Deirdre Walker as the Clinical Resource Centers (CRCs) at http://alpha-1foundation.org/ new Registry Coordinator. clinical-resource-centers/ As the She graduated from North CRC numbers continue to grow, Carolina State University we are pleased to highlight them in 2008 with a degree in in each edition of the Registry Genetics and has worked Newsletter. If you are not now in stem cell research at the getting study invitations by email Medical University of South and would like to receive email Carolina for the past two contacts, please contact the years. Prior to working at Registry with an email -- at alphaMUSC, she worked in a cell biology lab at GenPhar, Inc. Deirdre Walker [email protected] -- and we will add your email address to your contact for two years. She brings important genetics experience to the information. We hope you enjoy this MUSC team as we continue to enhance edition of the Alpha-1 Registry Newsletter. the capabilities of the Registry. She left stem cell biology because the stem cells Sincerely, couldn’t carry a conversation very well – she wanted a job that had more Charlie Strange, MD, human interaction. Please introduce Director, Alpha-1 Foundation yourselves at education days and Research Registry Professor of Pulmonary welcome her into the community. This edition of the newsletter and Critical Care Medicine highlights some research studies that Medical University of South Carolina



As a teen in Sweden, this Alpha helped with research of Alpha-1 co-discoverer.

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By Laura Schwarz ACT Study Coordinator

And 35 years later, she still competes in triathlon events.

Dr. Strange received a letter last spring from a woman in Kentucky named Gunilla Bowling. Bowling was born in Malmo, Sweden. In 1976, when she was 17, she worked a summer job at Malmo General Hospital, where she sterilized dishes from the lab. Soon after her job began, she heard that the professors needed volunteers to donate blood for a study using electrophoresis (a procedure which enables the sorting of molecules, such as DNA or proteins, based on size, shape or other characteristics). She gladly volunteered – in exchange for a free lunch. A few weeks later, she was surprised when she was the only one in the department asked to donate a second sample. During this same period, she had been offered a full-time position as a trainee and was transferred to the phlebotomy department. Later in the summer, she was tracked down by Prof. Carl-Bertil Laurell, MD, PhD, the head of the Clinical Chemistry Department at Malmo General Hospital, a part of the University of Lund. Laurell asked her to come to his office for some information. He explained Carl-Bertil Laurell that one of her blood samples had shown an unusual profile in one of the plasma proteins. Later, after another test, he confirmed that Bowling had Alpha-1 Antitrypsin Deficiency and a PiZZ genotype. She met with Laurell a few more times. He impressed upon her the possible future health effects that Alpha-1 could bring. He also told her about the lifestyle changes she

HELPING TO MAKE HISTORY At the time, Bowling had no idea just how important Laurell was in the history of Alpha-1 and chronic obstructive pulmonary disease (COPD) in general. But in fact, Laurell was a pioneer. He was famous for his research, including the co-discovery of Alpha-1 Antitrypsin Deficiency in 1963, along with Sten Eriksson, MD. While still a teenager, Bowling was among Laurell’s early research volunteers for Alpha-1. When she was 25, she moved to the southern United States. Perhaps surprisingly, the weather wasn’t one of her reasons. Her reasons were her love for horses and the opportunity to work in a large harness racing stable in Lake Worth, FL. “I had a great passion for the horses. Of course, it was not a stable financial career,” she says, making a little joke, “but it gave me the adventure of a lifetime.”

She was training Standardbred trotting horses – the American breed of trotting and pacing horses that was developed especially for harness racing by crossing Thoroughbred, Morgan and other breeds. She got to be on the road traveling to different racetracks around the country with these beautiful animals. In the late 1980s, she yearned for a cooler climate, but made sure that her four-legged friends would be nearby. This move brought her to Lexington, Kentucky, where she trained trotters and pacers at The Red Mile harness track and later worked at an equine hospital for six years. In the early 1990s, she settled down in Morehead, KY. Interestingly, after years of working in stables with horses, hay, and dust, as well as 10 years working as a safety coordinator amid the sawdust of a sawmill and lumber yard, she says that autumn is still the only season in which she struggles with breathing. See TRIATHLETE, page 4

Bowling exercising a trotter. could make to reduce the chance of developing respiratory symptoms as she got older. According to Bowling, before she came along, Laurell had to receive his PiZZ samples from a patient in Oslo, Norway. To have his samples of Alpha-1 blood plasma come from a few blocks away was quite an exciting prospect at the time.

Winter 2013 Update Letter from the Director.................................................1 Helping a pioneer..........................................................2 Newborn Screening Concerns....................................... 5 Ask the Alpha Doc..........................................................6

CRC: Ohio State.............................................................8 Vital studies need volunteers....................................... 10 Calendar of Coming Events......................................... 12

You may contact the Alpha-1 Foundation Research Registry staff by email, at [email protected] for additional assistance in locating resources related to Alpha-1 research, to obtain information about current research activities, to participate in the Research Network or Registry, or to receive Foundation publications.

“Getting my miles in” 2

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Gunilla Bowling with Tim, left, and her sons Eric, second from right, and Alex.

Preconception genetic testing concerns By Sara Wienke, MS, CGC Medical University of South Carolina

TRIATHLETE, continued from page 3 Keeping fit through running and working out has been a priority most of her life. In 2005, she began training for triathlons. She describes herself as “a vigorous triathlete with a mean breaststroke, a powerful road-cycle and a lousy run.”

About 10 years ago, a pulmonologist looked at her results and told her, “You don’t match this profile! We don’t know what to do with you!” From there, she was referred to the University of Kentucky – only because she was doing so well. Gunilla said her medical testing “caused a bit of confusion, as [the doctors would have normally expected me] to need a lung transplant due to my poor blood work and my age.” Bowling currently lives with About 10 years ago, her partner, Tim, and her two a pulmonologist looked sons, both Alpha-1 carriers. Eric, at her results and a senior at University of Pikeville, told her, “You don’t is a business major and plays on match this profile! the university soccer team. His 84-year-old grandmother, who We don’t know what to teaches line dancing at the local do with you!” senior citizen center, among other activities, is returning to America from Sweden for Eric’s graduation this spring. Alex is a sophomore at the Maysville Community College, working towards a carpentry degree. Fortunately for Bowling, she decided early in life to heed Laurell’s advice (except for several years in the 1990s when she lived with her first husband’s smoking habit) and has obviously remained healthy and fit. The secondhand smoke made her “horribly sick,” she says. But today, “I am proud to say that I am beating the odds that seemed rather grim when I was a teenager.” She would like to meet other Alphas in her area and possibly assist in support group meetings. She has also joined the Alpha-1 Research Registry, and says she will be happy to volunteer for Alpha-1 research studies again – after all these years.

GETTING HER MILES IN She says her current boss is wonderful, often allowing her flexible work hours to make sure she “gets my miles in.” A few samples of how serious Gunilla is about getting those daily miles in: • A 20-30 mile bike ride up and down the eastern Kentucky hills, often followed by a ¾ mile lake swim from May through September. • One-mile treadmill run plus 20 minutes of elliptical exercise, plus 1-½ hours of weightlifting. • A 5-6 mile trail run with her dogs, perhaps with a swim afterwards. • Triathlon training: half-mile lake swim, 16-mile bike ride, plus 5K run (during summer only). A healthy diet is also part of her daily routine – though she admits to eating some chocolate nearly every day. She competes in many athletic events over the spring and summer. For example, she participated in the Lame Duck Triathlon last July. “I ended up third female in my age group and just eighth female overall, which goes to show that the gals 50-54 are tough!” SURPRISING THE DOCTORS Over the past two decades, her good health and fitness have surprised several doubtful pulmonologists who insisted on repeatedly checking her Alpha-1 levels, breathing tests, liver function tests, and X-rays.

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There is a new trend in reproductive medicine. Genetic testing for autosomal recessive* conditions is now being offered to parents to determine if their future children are at risk of having one of these conditions. Until recently, there was no routine testing of parents to determine who is a carrier of Alpha-1 Antitrypsin Deficiency (Alpha-1). However, one California genetic testing company, Counsyl, has now included Alpha-1 to their panel.

Interested individuals have a blood or saliva sample taken at their doctor’s office and send it to the company. Counsyl tests the sample for many different genetic conditions that may be passed on to a child, including the Z allele for Alpha-1. With appropriate genetic counseling, these families can make important family planning decisions. The test offered by Counsyl screens for over 100 genetic conditions. This list includes those recommended by the American Congress of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics (ACMG) as well as others. The use of this testing is making many more people aware of their carrier status for many genetic conditions. Some experts have questioned the accuracy of the Counsyl screen. The single peer-reviewed study reported so far appeared in Reproductive BioMedicine Online. All the authors were either employees or consultants for Counsyl. Such screening tests generally do not have to be approved by the Food and Drug Administration. One disease in which this testing has been accepted for many years is cystic fibrosis (CF). Carrier screening for CF has been standard practice since 2001. In order for a child to be born with cystic fibrosis, both parents must be carriers for the condition. In the Caucasian population, 1 in 25 individuals are carriers for CF. This means that if there is no family history of CF in the family, the chances that a child could have CF is 1 in 2,500. However, if both parents are carriers, the chance is significantly higher. The purpose of screening is to alert families with an increased chance to allow for family planning. Additionally, different ethnic groups are at a higher

risk for having some conditions than others. The Caucasian population is the group at the highest risk for CF, whereas the African American population is at a low risk for CF but a higher risk for sickle cell disease. In the African American population, 1 in 12 individuals is a carrier for sickle cell disease. Historically, many individuals in the Alpha-1 community never knew about this disease until they, their child or family member was diagnosed as a ZZ. This may happen early in life as a result of poor liver function, or later when an adult is diagnosed with emphysema. The new type of genetic screening allows testing of family members in order to identify those that are carriers, those that are not, and even those that have undiagnosed Alpha-1. It is quite possible for people to take such a genetic test and find out they have or carry Alpha-1 with no known family history. These people will then have to decide how this information affects them and their health and family planning decisions. Some couples in this situation have reached out to the Alpha-1 community in order to learn more about Alpha-1. While it is unclear what impact, if any, this new test will have on the Alpha-1 community, it is important to be aware of its availability and the possible results that may come out of it. For our part, we can do our best to welcome and educate all newly diagnosed Alphas. *In autosomal recessive conditions, both parents must be carriers of the condition and each must pass on a disease allele to their child, in order for the child to have the condition. This is not dependent on gender – it affects boys and girls equally.

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Ask the Alpha Doc By Mark Wewers, MD Associate Director, Davis Heart and Lung Research Institute The Ohio State University

Alpha-1 protein levels do not get worse over time. Serial blood tests are not needed.

Q: Should I get regular blood tests to check for changes in my alpha-1 blood levels?

patients receiving weekly intravenous infusions, the timing is everything when interpreting alpha-1 protein levels. The nadir or lowest level, that is, the level just prior to the next infusion, has been shown to provide alpha-1 antitrypsin that is deemed to be at a “protective” level. This nadir level of alpha-1 was documented to be very uniform in individuals in the phase I and II studies done in the 1980s, and therefore does not need to be performed in new patients beginning therapy. Of note, patients receiving Alpha-1 infusion therapy may be misdiagnosed as PiMZ carriers if blood is sent for phenotype (protein) testing while on infusion therapy, since their blood now contains a mixture of PiM (from the infusions) and PiZ protein (from the patient).

A: Patients with the carrier state and intermediate levels of Alpha-1 are often concerned that their levels may fall over time to levels that put them at risk. This should not be a concern, because alpha-1 protein levels do not deteriorate over time into levels that put patients at enhanced risk. Thus, there is no indication for regular follow-up testing for alpha-1 blood levels in this group. In fact serial testing of alpha-1 blood levels is generally not indicated in any form of Alpha-1 Antitrypsin Deficiency. Blood levels of alpha-1 antitrypsin can change dramatically in individuals with PiMM phenotypes, because alpha-1 antitrypsin is an “acute phase reactant.” That means that blood levels of alpha-1 protein in PiMM individuals, though generally very stable, can double with stresses such as with infections and surgery. However, persons with the PiZZ phenotype show only very minimal changes with such stresses. Thus, screening subjects for low levels of alpha-1 protein can frequently be diagnostic of the homozygous deficiency state, since they are much less prone to false elevations due to stress. Carriers with PiMZ (and less often, PiSZ) types can be more problematic, as they may show near normal levels in times of stress. This explains the importance for genotyping individuals in addition to measuring blood levels. While PiZZ patients don’t significantly change their alpha-1 protein levels with stress, patients getting alpha-1 augmentation therapy do show wide swings in their blood levels of alpha-1 protein during the days following each infusion. This is because of the sudden boost in the blood concentrations from the protein infusions, followed by the natural redistribution of the infused protein into the tissues, combined with its natural clearance from the body. Thus, in

Q: Why don’t we have an inhaled form of alpha-1 antitrypsin? A: There is beauty and simplicity in the idea that one might provide the “protective shield” of alpha-1 protein by an aerosol approach to patients with Alpha-1 Antitrypsin Deficiency. The lung is one unusual organ: it can be directly accessed via the mouth and nose, without having to penetrate skin and tissue barriers. It has been shown that one can create theoretically protective levels of alpha-1 protein in the airways and alveolar spaces using an aerosol route. Another advantage is that the expense of intravenous infusion therapy might be lessened, since one could eliminate the potential for “wasteful” dosing of protein to the entire body (muscles,

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Are regular blood tests needed to check for Alpha-1 levels? heart, liver, skin etc) by focusing on the organ of interest, the lung. For these reasons there continues to be research directed at studying this approach as an alternative to the current standard, intravenous therapy. Aerosol therapy with alpha-1 protein seems logical, but there are some major questions about this approach that still need answers. First of all, the proteaseantiprotease hypothesis, which is the fundamental Why don’t we have backbone that supports idea of augmentation an inhaled form the therapy, has limitations. of augmentation? We do not know where the protease burden actually occurs in the lung. Is the injury happening on the airway side, or the blood vessel side of lung air spaces? Intravenous therapy has been shown to provide a correction of the antiprotease deficit at both sites: infusion therapy restores antiprotease activity to both the blood and the airspace. However, aerosols do a significantly better job of restoring protection to the airspace side of the lung than they do to the bloodstream side. Thus, if the protease burden is actually vascular based, one could imagine that an aerosol source of protection might be at a severe disadvantage and therefore, may not be effective. Secondly, the lung is an organ that was not designed to have high concentrations of airspace protein, so the long-term effects of giving a purified protein to the lung on a daily basis remain to be tested. With these concerns aside, an aerosol approach remains a logical alternative, but my own view is that it will need to have documented clinical efficacy before it can replace the

current standard of therapy, weekly intravenous infusion therapy. Q: Should I get a mediport for my alpha-1 infusions? A: The decision to get a permanent intravenous access site (commonly called a mediport, portacath, or just “port”) for alpha-1 infusions is one that needs to be made carefully in close consultation with your prescribing physician. It clearly increases the convenience of the infusion process, increases the efficiency of task and may eliminate the pain associated with venipuncture. But despite clear advantages with respect to the mechanics of giving each infusion, these advantages do come with risk. Central venous access ports create a new danger for blood stream infections and these types of infections can be life threatening when not recognized and treated immediately. Treatment of central line infections generally includes the need to have the access port removed altogether, and in some instances, six weeks of intravenous antibiotics. Another concern is that permanent ports have the potential to form blood clots at the site, which can lead to arm swelling on the affected side and the possibility of blood clots being released into the lungs (although generally not the life-threatening type). These risks need to be balanced against the degree of difficulty present with starting a fresh intravenous access with each weekly or biweekly infusion. In my own practice, I generally advise against the use of a central venous access for alpha-1 infusions unless the patient finds that intravenous access is very difficult and/or not practical, considering their specific environment. The pro and cons of a port access site need to be addressed on an individual basis with the care team.

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Clinical Resource Center:

Ohio State University carries on NIH Alpha-1 tradition By Mark D. Wewers, MD Associate Director, Davis Heart and Lung Research Institute The Ohio State University

The Registry was initiated in 1987 and involved 37 participating centers. Ohio State joined the ranks of these centers that provided uniform The Ohio State University’s Clinical Resource Center started approaches to pulmonary function unofficially in 1982 when James Gadek, MD, was recruited testing. We were able to contribute 28 to direct the pulmonary program here. Our resource center patients to the study, which demonbegan as an outgrowth of the foundational studies performed strated the safety of the approach and at the Clinical Center at the National Institutes of Health provided the FDA with the necessary (NIH). At the NIH, Gadek was responsible for infusing the information to support the continued first purified preparations of human alpha-1 antitrypsin into licensing of infusion therapy. (This study was reported in patients under the direction of Ronald Crystal, MD, then chief the American Journal of Respiratory and Critical Care of the Pulmonary Branch. (This research appeared in the Medicine in 1998.) Inspired by the Registry initiative, Ohio Journal of Clinical Investigation, 1981.) Gadek’s work State has continued to provide a resource to Alpha-1 patients opened the door to the concept that alpha-1 augmentation in the Midwest region. Our center gives guidance and therapy could become a realistic treatment option. monitoring for afflicted adults and family members seeking Cutter Biologics, a subsidiary of Miles advice on the implications of having Alpha-1 Laboratories, then took that idea one huge Antitrypsin Deficiency. We hope to open up step forward by developing a commercial Recently, our program has begun to new avenues product, also studied at the NIH under investigate novel concepts to provide insight Crystal’s guidance. I was excited to be given for preventive treatments into the mechanisms whereby Alpha-1 leads the chance to direct this study, which profor the lung disease. to loss of lung cells (emphysema). My vided the basic proof of principle that infucolleague Anasuya Sarkar, PhD, recently sion therapy could be a practical treatment funded through the Alpha-1 Foundation, option. This research appeared in the New England Journal is investigating the hypothesis that the lack of alpha 1-antiof Medicine in 1987. Gadek then recruited me to Ohio State trypsin in the blood serum may contribute to the enhanced to join him in the study of Alpha-1 patients, broadening the generation of a molecule called LL37. The hypothesis to be NIH connection to Ohio State. tested is that LL37 levels may be higher in the deficiency state The U.S. Food and Drug Administration (FDA) approved and that this increase may predispose affected lungs to injury infusion therapy as a result of the NIH study, but required that and tissue loss over time. a National Registry be formed to study the long-term safety We are hoping to recruit individuals from our Clinical and effectiveness of augmentation. Resource Center to obtain blood samples to test this idea.

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If confirmed, the hypothesis might explain why Alpha-1 related emphysema is more prominent in the bottom of the lung, where we expect the LL37 to be increased. More importantly we hope to open up new avenues for preventive treatments for the lung disease. The Ohio State program has greatly expanded its capacity to help Alphas as well as all patients suffering from the consequences of emphysema. Philip Diaz, MD, has developed a severe lung disease clinic in the university Lung Center that addresses the complex needs of patients with severe chronic obstructive lung disease. Under his guidance, Ohio State was one of the lead recruiting centers in the National Emphysema Treatment Trial (NETT), which tested the effectiveness of lung volume reduction surgery. Diaz’s program now studies the effect of long-term oxygen treatment for patients with emphysema as one of the top recruiting centers for the NOTT (Nocturnal Oxygen Treatment Trial). This study should provide important practical information about the usefulness of oxygen supplementation in patients with moderately severe hypoxemia. Thus, the initiatives that began in the Pulmonary Branch of the National Institutes of Health are alive and well in the Ohio State Lung Center. We are excited to be able to provide continued service to those individuals with Alpha-1 and offer a broad range of support structures through the Clinical Resource Center and the additional support structure of the Lung Center. We hope to add to the knowledge of the mechanisms of disease as the search for effective preventive measures continues here and elsewhere.

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Vital research studies need Alpha-1 volunteers Drug may improve liver disease in Alphas with advanced cirrhosis REGISTRY DIRECTOR’S INVITATION By Charlie Strange Dear Registry Members, Increasingly, many members of the Alpha-1 scientific community believe that treatments directed at the liver will be important for both lung and liver disease. The study below is targeted at individuals with very advanced liver disease. I believe this study is important because we need to figure out if an inexpensive medication can improve liver disease in Alphas with cirrhosis. Future studies will also evaluate the current study design to see if this model is an effective measure of cirrhosis improvement. Several changes in this trial have made it much easier for Alphas to take part. Please consider participation.

Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1-Antitrypsin Deficiency

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This is a double-blind, placebo-controlled trial directed by David Perlmutter, MD, of the University of Pittsburgh Medical Center. In this trial, 20 subjects will receive carbamazepine and 10 subjects will receive the placebo (a capsule that looks identical but does not contain carbamazepine). Double-blind means that neither the research subject nor the research team know which person is receiving active medication or placebo. This clinical trial is based on the laboratory findings that carbamazepine reverses liver damage and scarring in a mouse model of Alpha-1 Antitrypsin Deficiency. This trial is also possible because this drug has been used safely for many years in the treatment of epilepsy, chronic pain and depression. The results of the trial will be revealed through liver biopsy and liver pressure determinations, done at the beginning and the end of the trial. Liver biopsy and pressure determinations are carried out together as one procedure in which a

David Perlmutter, MD, University of Pittsburgh special catheter is introduced into a vein, usually through the neck. The catheter is threaded to the liver using an x-ray machine for guidance. Participants are given sedation for the procedure. The outcome of the trial will also be determined by history of symptoms, changes found by physical examination, and blood tests that are done at intervals during and after the 12-month treatment period.

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The drug will be given at a dose which is identical to the one that is used for epilepsy or mood stabilization. It will be started at a lower dose and slowly increased over the first four weeks to reduce the likelihood of any allergic reaction. The study is taking place at the University of Pittsburgh Medical Center as a single center trial with relatively frequent visits in the first year and a few visits for follow-up in the second year. There are five visits in the first eight weeks; five additional visits in the remainder of the first year; and three visits in the second year. Funds are available to cover travel expenses. To be eligible for the trial, you must have complete Alpha-1

Antitrypsin Deficiency with signs of elevated liver pressure, among other criteria. Your doctor will be contacted to find out if you meet the entry criteria. The trial is supported by grants from the National Institutes of Health and Novartis Institute for Biomedical Sciences and has been approved by the Institutional Review Board of the University of Pittsburgh. For more information or to participate, contact Erin Sandene at [email protected] or at (412) 692-6558.

Alphas needed for study of lung blood vessels

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Columbia University is conducting a study sponsored by the Alpha-1 Foundation to look at what changes, if any, occur in the blood vessels and arteries of the lungs of patients with Alpha1. The ultimate goal is to use the information gained from this study to possibly develop new treatments for Alpha-1. Studies done in animals (but not so far in humans) have shown that the lack of alpha-1 protein causes apoptosis, or selfdestruction, of the cells lining Kathleen Donohue, MD, the blood vessels in the lung. Columbia University Kathleen Donohue, MD, and her colleagues at Columbia plan to use newly available methods to study markers of blood vessel cell death in Alpha-1 lung disease. Participants will be asked to travel to Columbia University Medical Center and have a CT scan of their chest and MRI of their heart and lungs. The entire study visit will take about 5-7 hours. To be eligible for participation, you must be 50-79 years old, must have smoked at least 10 “pack years” (a pack year

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is defined as smoking one pack of cigarettes a day for a year) and have an SZ or ZZ genotype or Alpha-1 level of less than or equal to 20 mmol/L or less than or equal to 83 mg/dL.

Why should you participate? The only way to develop new treatments and therapies for Alpha-1 is to study individuals with disease. The more that we understand about the changes that occur in the body, the more we will be able to effectively treat those changes. The lung is filled with arteries and vessels that carry blood to be oxygenated and blood that has already been oxygenated to send to other parts of the body. Researchers are wondering if Alpha-1 causes changes to those blood vessels that we could target with new therapies that could prevent the progression of the disease. Some reimbursement ($120 + parking and lunch) is available for travel expenses Call (212) 305-9821 for information, or if you would like to participate.

Calendar of coming events For for the most up-to-date listings, check our website at www.alpha-1foundation.org.

Jan. 24

An Evening at Romeo’s

Miami, FL

Shaefer Withers: [email protected]

Feb.2

Education Day

Gainesville, FL

Alexis Artiles: [email protected]

Mar. 9

Celtic Connection

Boston, MA

Bob Healy: [email protected]

Mar 23

Education Day

San Antonio, TX

Alexis Artiles: [email protected]

April 20

Hero Walk

Henrico, VA

Pam Van Scoy: [email protected]

April 20

Alpha-­1 Research, UMASS

Worcester, MA

Angela McBride: amcbride@alpha-­1foundation.org

April 26s

Celebration of Life

Miami, FL

Olga Fraga: ofraga@alpha-­1foundation.org

April 29

Golf for a Cure

Jacksonville, FL

Sarah Johnson: [email protected]

May 11

George Washington Bridge Walk

New York - New Jersey

Joe Reidy: [email protected]

May 18

Alpha-­1 Walk

Philadelphia, PA

Angela McBride: amcbride@alpha-­1foundation.org

May 20

Alpha-­1 Research Awards ATS Philadelphia, PA Pennsylvania Academy of the Fine Arts

Angela McBride: amcbride@alpha-­1foundation.org

June 7-9

22nd National Education Conference

Washington, DC

Alexis Artiles: [email protected]

August 10

Education Day

Denver, CO

Alexis Artiles: [email protected]

Sept. 20

Education Day

Chicago, IL

Alexis Artiles: [email protected]

Oct. 19

Education Day

Charlotte, NC

Alexis Artiles: [email protected]

Nov. 16

Education Day

Anaheim, CA

Alexis Artiles: [email protected]

Alpha-1 Foundation

AlphaNet

The Alpha-1 Foundation is dedicated to providing the leadership and resources that will result in increased research, improved health, worldwide detection, and a cure for Alpha-1 Antitrypsin Deficiency (Alpha-1). The Alpha-1 Foundation has invested nearly $47 million to support Alpha-1 Antrypsin Deficiency research at 94 institutions in North America, Europe, the Middle East and Australia.

AlphaNet, Inc. is a unique disease management organization. Through its medical and operations staff, AlphaNet provides a wide range of integrated support services to individuals with Alpha-1 Antitrypsin Deficiency who require augmentation therapy, oversees and sponsors clinical trials involving Alpha-1 therapies, and makes available a comprehensive disease management and prevention program to improve the quality of life of those affected by Alpha-1.

Alpha-1 Association

The Alpha-1 Association is a member-based not-for-profit organization founded in 1991 to identify those affected by Alpha-1 Antitrypsin Deficiency and to improve the quality of their lives through support, education and advocacy. The Association has a network of more than 75 volunteer-led support groups around the U.S.

The Registry Update is funded by unrestricted educational grants from CSL Behring Centric Health Resources Grifols

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